Rare disease policy in 11 countries: an analysis

The national rare disease policy in 11 countries have been compared and contrasted in an article published in the Orphanet Journal of Rare Diseases. The authors evaluated the rare disease policy landscape in Germany, France, the United Kingdom, Canada, Bulgaria, Turkey, Argentina, Mexico, Brazil, China, and Taiwan across five key dimensions. Highlights are mentioned below:

  • Improving coordination of care: Originally developed in France, patients within the European Union benefit from the wide range of specialist centres, and will also benefit from the recently approved 23 European Reference Networks (ERN)s. Taiwan has at least 10 approved genetic counseling centres, however larger countries such as those in Latin America patients lack access to such centres. Even then in Argentina initiatives such as Cibersalud “an innovative tool to strengthen the network of specialists in the country and facilitate referrals, diagnosis, and monitoring” aim to make a difference.
  • Diagnostic resources: Taiwan, Brazil, UK, Germany have neonatal screening programmes. Canada has also recently announced screening for 22 core conditions. However, the authors note that in most of the surveyed countries there was a lack of a formal programme or consistent resources to implement screening. Diagnoses of rare diseases beyond the neonatal stage remains challenges across the countries surveyed where some patients had to wait many years for an accurate diagnosis
  • Access to treatments: This has been made a key priority in the countries within the European Union, according the authors highlighting several schemes by the European Medicines Agency (EMA) on regulatory support and early access. Mexico and Argentina provide early access to drugs that have been granted expedited access in the United States or by the EMA. Canada lacks an accelerated access scheme.
  • Patient awareness and support: The authors state that patient advocacy in the UK, France and Germany are well-established. In Argentina, Canada and Taiwan, patient advocacy has helped implement legislative changes. They note that in China, although patient organisations are active, they are still striving for legislative changes.
  • Promoting innovative research: According to the authors, funding for research in rare diseases were proportional to the “overall GDP as well as investment in innovation, science, and healthcare” of the country. While countries in the European Union and Canada have a strong research focus, the authors state that in countries like Bulgaria, Turkey, Mexico, there is no national initiative to fund rare disease research. In Argentina as well, research is rarely federally funded, according to the authors, while in Brazil a bill for rare disease research is currently being reviewed by their Congress.
    The authors detail that while France serves as a model for national coordination of registries through BNDMR, the UK, Bulgaria and Argentina are in various stages of implementation of a national registry. Mexico and China have registries that are local but lack structure according to the authors.